S8G (p.Ser8Gly) variant of UBQLN2 (Ubiquilin-2)
S8G (p.Ser8Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD X-56563895-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available